{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA12800807",
  "communityStandardTitle": [
    "NM_145003.5(TSNARE1):c.1447-1993T>G"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.143312933A>C?assembly=hg19",
        "id": "chr8:g.143312933A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.142231572A>C?assembly=hg38",
        "id": "chr8:g.142231572A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/4129585",
        "rs": 4129585
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-143312933-A-C?dataset=gnomad_r2_1",
        "id": "8-143312933-A-C",
        "variant": "8:143312933 A / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-142231572-A-C?dataset=gnomad_r3",
        "id": "8-142231572-A-C",
        "variant": "8:142231572 A / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-142231572-A-C?dataset=gnomad_r4",
        "id": "8-142231572-A-C",
        "variant": "8:142231572 A / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 142231572,
          "referenceAllele": "A",
          "start": 142231571
        }
      ],
      "hgvs": [
        "NC_000008.11:g.142231572A>C",
        "CM000670.2:g.142231572A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 143312933,
          "referenceAllele": "A",
          "start": 143312932
        }
      ],
      "hgvs": [
        "NC_000008.10:g.143312933A>C",
        "CM000670.1:g.143312933A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 143310840,
          "referenceAllele": "A",
          "start": 143310839
        }
      ],
      "hgvs": [
        "NC_000008.9:g.143310840A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1564,
          "endIntronDirection": "-",
          "endIntronOffset": 1992,
          "referenceAllele": "T",
          "start": 1564,
          "startIntronDirection": "-",
          "startIntronOffset": 1993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026437",
      "geneNCBI_id": 203062,
      "geneSymbol": "TSNARE1",
      "hgvs": [
        "ENST00000524325.6:c.1447-1993T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428763.2:n.1447-1993T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758847",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000524325.6:c.1447-1993T>G"
          },
          "RefSeq": {
            "hgvs": "NM_145003.5:c.1447-1993T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000428763.2:n.1447-1993T>G"
          },
          "RefSeq": {
            "hgvs": "NP_659440.2:n.1447-1993T>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1567,
          "endIntronDirection": "-",
          "endIntronOffset": 1992,
          "referenceAllele": "T",
          "start": 1567,
          "startIntronDirection": "-",
          "startIntronOffset": 1993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026437",
      "geneNCBI_id": 203062,
      "geneSymbol": "TSNARE1",
      "hgvs": [
        "ENST00000307180.4:c.1450-1993T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303437.4:n.1450-1993T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255849"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1488,
          "endIntronDirection": "-",
          "endIntronOffset": 1992,
          "referenceAllele": "T",
          "start": 1488,
          "startIntronDirection": "-",
          "startIntronOffset": 1993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026437",
      "geneNCBI_id": 203062,
      "geneSymbol": "TSNARE1",
      "hgvs": [
        "ENST00000520166.5:c.1450-1993T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427770.2:n.1450-1993T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS347260"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1622,
          "endIntronDirection": "-",
          "endIntronOffset": 1992,
          "referenceAllele": "T",
          "start": 1622,
          "startIntronDirection": "-",
          "startIntronOffset": 1993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026437",
      "geneNCBI_id": 203062,
      "geneSymbol": "TSNARE1",
      "hgvs": [
        "ENST00000524325.5:c.1447-1993T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428763.2:n.1447-1993T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS350512"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1631,
          "endIntronDirection": "-",
          "endIntronOffset": 1992,
          "referenceAllele": "T",
          "start": 1631,
          "startIntronDirection": "-",
          "startIntronOffset": 1993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026437",
      "geneNCBI_id": 203062,
      "geneSymbol": "TSNARE1",
      "hgvs": [
        "NM_145003.4:c.1447-1993T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_659440.2:n.1447-1993T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041294"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1567,
          "endIntronDirection": "-",
          "endIntronOffset": 1992,
          "referenceAllele": "T",
          "start": 1567,
          "startIntronDirection": "-",
          "startIntronOffset": 1993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026437",
      "geneNCBI_id": 203062,
      "geneSymbol": "TSNARE1",
      "hgvs": [
        "NM_001363740.2:c.1450-1993T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350669.1:n.1450-1993T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523523"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1561,
          "endIntronDirection": "-",
          "endIntronOffset": 1992,
          "referenceAllele": "T",
          "start": 1561,
          "startIntronDirection": "-",
          "startIntronOffset": 1993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026437",
      "geneNCBI_id": 203062,
      "geneSymbol": "TSNARE1",
      "hgvs": [
        "NM_001366901.1:c.1444-1993T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001353830.1:n.1444-1993T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524845"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1953,
          "endIntronDirection": "-",
          "endIntronOffset": 1992,
          "referenceAllele": "T",
          "start": 1953,
          "startIntronDirection": "-",
          "startIntronOffset": 1993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026437",
      "geneNCBI_id": 203062,
      "geneSymbol": "TSNARE1",
      "hgvs": [
        "XM_017013176.1:c.1915-1993T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868665.1:n.1915-1993T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566546"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 436,
          "endIntronDirection": "-",
          "endIntronOffset": 184,
          "referenceAllele": "T",
          "start": 436,
          "startIntronDirection": "-",
          "startIntronOffset": 185
        }
      ],
      "hgvs": [
        "XR_001746132.1:n.437-185T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594500"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1564,
          "endIntronDirection": "-",
          "endIntronOffset": 1992,
          "referenceAllele": "T",
          "start": 1564,
          "startIntronDirection": "-",
          "startIntronOffset": 1993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026437",
      "geneNCBI_id": 203062,
      "geneSymbol": "TSNARE1",
      "hgvs": [
        "NM_145003.5:c.1447-1993T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_659440.2:n.1447-1993T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672112",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000524325.6:c.1447-1993T>G"
          },
          "RefSeq": {
            "hgvs": "NM_145003.5:c.1447-1993T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000428763.2:n.1447-1993T>G"
          },
          "RefSeq": {
            "hgvs": "NP_659440.2:n.1447-1993T>G"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}